| 基因名 | 突变 |
|---|---|
| CCDC173(NM_001085447,coiled-coil domain containing 173,552aa) | g.2:170502401G>A,c.1609C>T,p.P537S |
| CCDC173(NM_001085447,coiled-coil domain containing 173,552aa) | g.2:170502355C>T,c.1655G>A,p.W552X |
| CCDC172(NM_198515,coiled-coil domain containing 172,258aa) | g.10:118116936_118116941del,c.493_498del,p.165_166del |
| CCDC172(NM_198515,coiled-coil domain containing 172,258aa) | g.10:118100319A>G,c.239A>G,p.Y80C |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15971726C>G,c.3873C>G,p.F1291L |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15971628A>G,c.3775A>G,p.N1259D |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15920290A>G,c.3623A>G,p.D1208G |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15874622G>T,c.3561G>T,p.M1187I |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15874593C>T,c.3532C>T,p.P1178S |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15874585T>G,c.3524T>G,p.L1175R |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15874546C>T,c.3485C>T,p.S1162L |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15846832C>T,c.3400C>T,p.R1134C |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15784631A>G,c.3206A>G,p.K1069R |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15777805G>A,c.2879G>A,p.R960H |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15777640C>G,c.2714C>G,p.A905G |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15745587A>G,c.2629A>G,p.I877V |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15744683G>A,c.2462G>A,p.C821Y |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15744616C>T,c.2395C>T,p.R799C |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15744607G>A,c.2386G>A,p.G796R |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15729648C>T,c.1901C>T,p.T634M |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15729624A>G,c.1877A>G,p.Y626C |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15728029G>C,c.1855G>C,p.E619Q |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15724882G>A,c.1600G>A,p.V534M |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15723737A>T,c.1484A>T,p.N495I |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15723730A>G,c.1477A>G,p.T493A |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15695318C>T,c.1301C>T,p.S434L |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15695278G>A,c.1261G>A,p.V421M |
| CCDC171(NM_173550,coiled-coil domain containing 171,1326aa) | g.9:15678805G>A,c.1126G>A,p.E376K |